NM_006218.4(PIK3CA):c.2558A>G (p.Asn853Ser) AND Cowden syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 27, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001236464.6
Allele description [Variation Report for NM_006218.4(PIK3CA):c.2558A>G (p.Asn853Ser)]
NM_006218.4(PIK3CA):c.2558A>G (p.Asn853Ser)
Condition(s)
- Name:
- Cowden syndrome (CS)
- Synonyms:
- Cowden's disease; Cowden's syndrome; Cowden disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016063; MedGen: C0018553; Orphanet: 201; OMIM: PS158350
Assertion and evidence details
Last Updated: Feb 28, 2024